Incidental Mutation 'R6548:Krt28'
ID 521389
Institutional Source Beutler Lab
Gene Symbol Krt28
Ensembl Gene ENSMUSG00000055937
Gene Name keratin 28
Synonyms 4733401L19Rik
MMRRC Submission 044673-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # R6548 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 99255698-99265729 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 99257839 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 334 (E334G)
Ref Sequence ENSEMBL: ENSMUSP00000006963 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006963]
AlphaFold A6BLY7
Predicted Effect probably damaging
Transcript: ENSMUST00000006963
AA Change: E334G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000006963
Gene: ENSMUSG00000055937
AA Change: E334G

DomainStartEndE-ValueType
low complexity region 23 44 N/A INTRINSIC
Filament 83 398 4.6e-144 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.7%
Validation Efficiency 93% (38/41)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the type I (acidic) keratin family, which belongs to the superfamily of intermediate filament (IF) proteins. Keratins are heteropolymeric structural proteins which form the intermediate filament. These filaments, along with actin microfilaments and microtubules, compose the cytoskeleton of epithelial cells. The type I keratin genes are clustered in a region of chromosome 17q12-q21. [provided by RefSeq, Jul 2009]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9030612E09Rik T C 10: 43,050,769 (GRCm39) L21P probably damaging Het
Ank3 C T 10: 69,728,240 (GRCm39) A642V probably damaging Het
Bap1 A G 14: 30,978,182 (GRCm39) N349S probably benign Het
Brca1 G T 11: 101,415,591 (GRCm39) Q32K probably damaging Het
Ccdc39 A T 3: 33,892,108 (GRCm39) N121K probably benign Het
Champ1 A T 8: 13,930,002 (GRCm39) N720I probably damaging Het
Chd3 T A 11: 69,252,886 (GRCm39) R216* probably null Het
D630003M21Rik A G 2: 158,047,619 (GRCm39) probably null Het
Exoc2 A T 13: 31,010,047 (GRCm39) V804E possibly damaging Het
Fcgbp A G 7: 27,791,343 (GRCm39) N868S probably benign Het
Gm10376 T C 14: 42,873,025 (GRCm39) M1V probably null Het
Gpc2 G A 5: 138,275,533 (GRCm39) probably null Het
Gpr37 G A 6: 25,688,812 (GRCm39) T95I probably benign Het
Ints3 G A 3: 90,299,431 (GRCm39) probably benign Het
Lrrc75a T A 11: 62,496,921 (GRCm39) T214S probably damaging Het
Lyar A G 5: 38,385,202 (GRCm39) I81V probably benign Het
Mon2 A T 10: 122,871,998 (GRCm39) L342Q probably damaging Het
Mug2 C T 6: 122,024,401 (GRCm39) A491V probably damaging Het
Myh2 A G 11: 67,077,438 (GRCm39) T858A probably benign Het
Net1 C T 13: 3,936,074 (GRCm39) probably null Het
Or52s1 T A 7: 102,861,111 (GRCm39) Y4N probably benign Het
Or5p76 T C 7: 108,122,423 (GRCm39) T245A probably benign Het
Platr25 A T 13: 62,821,623 (GRCm39) I110N possibly damaging Het
Plk5 T A 10: 80,198,879 (GRCm39) L412H probably damaging Het
Rasal1 A T 5: 120,812,790 (GRCm39) T605S probably benign Het
Ryr2 T A 13: 11,683,707 (GRCm39) D3119V probably damaging Het
Serpina1a G T 12: 103,820,017 (GRCm39) H387N probably benign Het
Serpina1d G T 12: 103,733,811 (GRCm39) N164K probably damaging Het
Smurf1 A G 5: 144,836,307 (GRCm39) Y69H probably damaging Het
Sod2 A G 17: 13,227,250 (GRCm39) K68R probably benign Het
Ssbp2 A G 13: 91,687,470 (GRCm39) N51S possibly damaging Het
Tcl1b1 A G 12: 105,130,663 (GRCm39) R49G probably benign Het
Tgfb1 A G 7: 25,396,350 (GRCm39) I214M probably benign Het
Tln1 A G 4: 43,547,525 (GRCm39) I812T probably damaging Het
Topaz1 T A 9: 122,577,419 (GRCm39) C110S possibly damaging Het
Ubap2l A G 3: 89,930,867 (GRCm39) F393L probably damaging Het
Vmn1r62 G A 7: 5,678,769 (GRCm39) G150D probably damaging Het
Wdr24 C A 17: 26,046,899 (GRCm39) Q651K probably damaging Het
Wdr7 A G 18: 63,911,322 (GRCm39) T905A possibly damaging Het
Zfyve26 A G 12: 79,285,109 (GRCm39) F2382S probably damaging Het
Other mutations in Krt28
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01374:Krt28 APN 11 99,262,294 (GRCm39) missense probably benign 0.00
IGL01568:Krt28 APN 11 99,262,243 (GRCm39) missense probably damaging 1.00
IGL01590:Krt28 APN 11 99,265,220 (GRCm39) critical splice donor site probably null
R1250:Krt28 UTSW 11 99,257,648 (GRCm39) critical splice donor site probably null
R1488:Krt28 UTSW 11 99,255,997 (GRCm39) missense probably benign 0.01
R2116:Krt28 UTSW 11 99,255,943 (GRCm39) missense probably benign 0.27
R4244:Krt28 UTSW 11 99,265,376 (GRCm39) missense probably damaging 1.00
R4862:Krt28 UTSW 11 99,255,936 (GRCm39) missense possibly damaging 0.92
R4928:Krt28 UTSW 11 99,265,458 (GRCm39) missense probably benign 0.00
R5035:Krt28 UTSW 11 99,257,650 (GRCm39) missense probably benign 0.00
R5568:Krt28 UTSW 11 99,262,210 (GRCm39) missense probably damaging 1.00
R5642:Krt28 UTSW 11 99,265,320 (GRCm39) missense probably damaging 1.00
R5873:Krt28 UTSW 11 99,257,716 (GRCm39) missense probably damaging 1.00
R6053:Krt28 UTSW 11 99,262,027 (GRCm39) missense probably benign 0.05
R7194:Krt28 UTSW 11 99,265,230 (GRCm39) nonsense probably null
R7863:Krt28 UTSW 11 99,255,999 (GRCm39) missense possibly damaging 0.65
R7986:Krt28 UTSW 11 99,257,651 (GRCm39) missense probably benign 0.00
R8415:Krt28 UTSW 11 99,265,626 (GRCm39) missense probably benign
R9710:Krt28 UTSW 11 99,255,921 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CATGGCTGTGGTTGGAAACTTC -3'
(R):5'- TTCAGTGCTGTTCACCCAGG -3'

Sequencing Primer
(F):5'- TCGTCTCCGTCTATGAGGC -3'
(R):5'- CTGTTCACCCAGGGTTAATAACAGG -3'
Posted On 2018-06-06